BBS12 Proteins

Protein Information

The BBS12 gene is a key contributor to Bardet-Biedl Syndrome (BBS), a rare genetic disorder characterized by primary cilia dysfunction, leading to diverse clinical manifestations such as retinal degeneration, obesity, polydactyly, renal abnormalities, and learning difficulties. BBS12 is located on chromosome 4q27 and encodes a vertebrate-specific chaperonin-like protein. Together with BBS6 and BBS10, BBS12 forms a part of a complex associated with the CCT/TRiC family of chaperonins, which are essential for the proper assembly of the BBSome complex. This complex plays a critical role in the trafficking of vesicles to cilia and is crucial for ciliary function and structure. Mutations in BBS12 are responsible for approximately 5% of BBS cases, underscoring its significant role in the pathophysiology of the syndrome. These mutations often lead to disruptions in ciliary functions, which are pivotal for the syndrome¿s manifestation.

Synonyms

Bardet-Biedl syndrome 12; Bardet-Biedl syndrome 12 (human); Bardet-Biedl syndrome 12 protein; Bardet-Biedl syndrome 12 protein homolog; Bbs12; C4orf24; DN-452A22.3; Gm1805; Gm407; Gm721